Genome-wide association and multi-omic analyses reveal ACTN2 as a gene linked to heart failure

Nat Commun. 2020 Feb 28;11(1):1122. doi: 10.1038/s41467-020-14843-7.

Abstract

Heart failure is a major public health problem affecting over 23 million people worldwide. In this study, we present the results of a large scale meta-analysis of heart failure GWAS and replication in a comparable sized cohort to identify one known and two novel loci associated with heart failure. Heart failure sub-phenotyping shows that a new locus in chromosome 1 is associated with left ventricular adverse remodeling and clinical heart failure, in response to different initial cardiac muscle insults. Functional characterization and fine-mapping of that locus reveal a putative causal variant in a cardiac muscle specific regulatory region activated during cardiomyocyte differentiation that binds to the ACTN2 gene, a crucial structural protein inside the cardiac sarcolemma (Hi-C interaction p-value = 0.00002). Genome-editing in human embryonic stem cell-derived cardiomyocytes confirms the influence of the identified regulatory region in the expression of ACTN2. Our findings extend our understanding of biological mechanisms underlying heart failure.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • ABO Blood-Group System / genetics
  • Actinin / genetics*
  • Atrial Fibrillation / genetics
  • Chromosomes, Human, Pair 1
  • Enhancer Elements, Genetic
  • Gene Expression Regulation
  • Genetic Predisposition to Disease / genetics*
  • Genome-Wide Association Study
  • Heart Failure / genetics*
  • Heart Failure / pathology
  • Human Embryonic Stem Cells / cytology
  • Humans
  • Musculoskeletal Diseases / genetics
  • Myocytes, Cardiac / cytology
  • Polymorphism, Single Nucleotide
  • Quantitative Trait Loci

Substances

  • ABO Blood-Group System
  • ACTN2 protein, human
  • Actinin